Glycogen storage disease 1

Glycogen storage disease 1 is an autosomal recessive disorder caused by mutations of the SLC37A4 or G6PC gene. It manifests in liver and kidney. The renal disease includes most commonly glomerulosclerosis. A renotubular Fanconi syndrome is also observed in some cases.

Arion WJ et al. (1980) Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate.